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Mitochondrial DNA disease: new options for prevention.
Craven L, Elson JL, Irving L, Tuppen HA, Lister LM, Greggains GD, Byerley S, Murdoch AP, Herbert M, Turnbull D. Craven L, et al. Among authors: tuppen ha. Hum Mol Genet. 2011 Oct 15;20(R2):R168-74. doi: 10.1093/hmg/ddr373. Epub 2011 Aug 18. Hum Mol Genet. 2011. PMID: 21852248 Free PMC article. Review.
Homoplasmy, heteroplasmy, and mitochondrial dystonia.
McFarland R, Chinnery PF, Blakely EL, Schaefer AM, Morris AA, Foster SM, Tuppen HA, Ramesh V, Dorman PJ, Turnbull DM, Taylor RW. McFarland R, et al. Among authors: tuppen ha. Neurology. 2007 Aug 28;69(9):911-6. doi: 10.1212/01.wnl.0000267843.10977.4a. Neurology. 2007. PMID: 17724295
Mitochondrial DNA mutations and human disease.
Tuppen HA, Blakely EL, Turnbull DM, Taylor RW. Tuppen HA, et al. Biochim Biophys Acta. 2010 Feb;1797(2):113-28. doi: 10.1016/j.bbabio.2009.09.005. Epub 2009 Sep 15. Biochim Biophys Acta. 2010. PMID: 19761752 Free article. Review.
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
Kemp JP, Smith PM, Pyle A, Neeve VC, Tuppen HA, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R. Kemp JP, et al. Among authors: tuppen ha. Brain. 2011 Jan;134(Pt 1):183-95. doi: 10.1093/brain/awq320. Epub 2010 Dec 17. Brain. 2011. PMID: 21169334 Free PMC article.
Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.
Greaves LC, Nooteboom M, Elson JL, Tuppen HA, Taylor GA, Commane DM, Arasaradnam RP, Khrapko K, Taylor RW, Kirkwood TB, Mathers JC, Turnbull DM. Greaves LC, et al. Among authors: tuppen ha. PLoS Genet. 2014 Sep 18;10(9):e1004620. doi: 10.1371/journal.pgen.1004620. eCollection 2014 Sep. PLoS Genet. 2014. PMID: 25232829 Free PMC article.
36 results